BACKGROUND Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the dystrophin gene. Despite the progress in the technologies of mutation detection, the disease of one third of patients escapes molecular definition because the labor and expense involved has precluded analyzing the entire gene. Novel techniques with higher detection rates, such as multiplex ligation-de...

Background Thalassemia is a common inherited hemoglobin disorder caused by deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are major causes β-thalassemia, which large fragment rare difficult to be detected conventional polymerase chain reaction (PCR)-based methods. Case report In this study, we reported 26-year-old Han Chinese man, whose routine bl...

Introduction. Genetic forms of Parkinson’s disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state knowledge regarding genetic causes PD describe first Polish patient SNCA duplication. Methodology. We searched electronic database, PubMed, for studies between January 1995 June 2020 that eva...

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer characterized by the development of numerous basal cancers and various other developmental abnormalities, including epidermal cysts skin, calcified dural folds, keratocysts jaw, palmar plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas. BCNS shows autosomal dominant inheritance caused mu...

background: reversal of tubal ligation is requested by some women for various reasons. the present study aims to determine the rate of pregnancy after tubal ligation reversal. case: in these case series, we reported fifteen women who requested tuboplasty after tubal ligation. in these cases reversal of tubal ligation was done in 15 women. pregnancy occurred in 4 women (26.6%). two term pregnanc...

BACKGROUND The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE To evaluate the sensitivi...

PURPOSE To determine intratumor genetic heterogeneity in uveal melanoma (UM) by multiplex ligation-dependent probe amplification (MLPA) in formalin-fixed, paraffin-embedded (FFPE) tumor tissues. METHODS DNA was extracted from whole tumor sections and from two to nine different areas microdissected from 32 FFPE UMs. Thirty-one loci on chromosomes 1, 3, 6, and 8 were tested with MLPA for copy n...

Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened. Recently, multiplex ligation-dependent probe amplification (MLPA) has been adapted for use in sub...

Hemophilia A (HA) and B (HB) are estimated to affect 1 in 5,000 male births in the United States each year.[1] Inheritance of mutations in the Factor VIII (F8) gene or Factor IX (F9) gene causes these bleeding disorders. Identification of mutations causing a patient’s hemophilia can lead to better understanding of risk of complications [2], as well as aid in carrier detection in family members ...

Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for their identification. The multiplex lig...